The Problem With Small Panels
Precision oncology depends on knowing the full genomic landscape of a patient’s tumour. Yet most clinical laboratories continue to rely on gene panels covering only 50 to 100 genes– panels that routinely miss critical hotspots, emerging driver mutations, and pan-tumour biomarkers like microsatellite instability and tumour mutational burden. The result is an incomplete molecular picture that constrains therapeutic decision-making before it even begins.
At 1Cell.ai, we built OncoIndx to change that. And in this independently conducted study at the Medical College of Georgia at Augusta University : a CLIA-certified molecular diagnostics laboratory- our 1080-gene comprehensive genomic profiling assay received its most rigorous external validation to date.
The Study
Researchers at Augusta University retrospectively evaluated the analytical performance and clinical utility of OncoIndx across 140 solid tumour samples representing 18 cancer types, benchmarked against the TruSight Oncology 500 (TSO-500) panel- one of the most widely used clinical NGS assays in the world. Concordance was assessed across 81 genes, covering 176 single-nucleotide variants, 8 copy number variations, 4 deletions, 1 duplication, and 4 gene fusions. Limit of detection studies, inter- and intra-run reproducibility assessments, and MSI/TMB quantification were all independently performed and evaluated.
Results That Speak for Themselves
The performance of OncoIndx across all variant classes was exceptional:
- >99% sensitivity and 100% specificity for SNV detection across 176 variants
- 100% sensitivity, specificity, and accuracy for CNVs, indels, duplications, and gene fusions
- 100% concordance for gene fusion detection across all five samples with known fusions including NCOA4-RET, ST7-MET, ALK-TNS1, and ALK-EML4
- Robust SNV detection down to 5% variant allele frequency, with 76% of variants detected even at the lowest dilution
- CNVs detected with 100% accuracy across all tested copy number levels
- 100% inter- and intra-run reproducibility across seven samples tested in multiple independent runs
- MSI results showed negligible bias compared to TSO-500, confirming strong agreement between the two platforms
Beyond variant detection, the study confirmed that OncoIndx’s integration with the iCare™ cloud-based bioinformatics platform: which accepts raw FASTQ files and delivers fully annotated clinical variant reports without intermediate manual steps, substantially streamlines the post-sequencing workflow that has long been a bottleneck in molecular diagnostics.
Why This Matters
This external validation study, conducted entirely independently at a leading US academic medical centre, confirms what 1Cell.ai has demonstrated across our growing body of clinical evidence:
“OncoIndx is not just comprehensive; it is analytically rigorous, reproducible, and clinically deployable.”
For oncologists and pathologists, the ability to simultaneously profile 1080 cancer-relevant genes, detect SNVs, CNVs, indels, fusions, MSI, and TMB from a single DNA input, and receive a fully annotated clinical report without bioinformatics infrastructure, represents a meaningful step forward in making comprehensive genomic profiling scalable and accessible across clinical settings.
Precision oncology should not be limited by the size of the panel. With OncoIndx and iCare, it no longer has to be.
Conducted at the Department of Pathology, Medical College of Georgia at Augusta University
Published in Biomedicines, 2026 | DOI: 10.3390/biomedicines14071462 | Medical College of Georgia at Augusta University
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